IRIS

DE BERARDINIS, TERESA

DE BERARDINIS, TERESA  

Mostra records
Risultati 1 - 20 di 35 (tempo di esecuzione: 0.053 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Clinical and surgical data of affected members of a classic CFEOM 1 family. 1.1 Articolo in rivista 2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
Clinical and surgical data of affected members of a classic CFEOM 1 family. 1.1 Articolo in rivista 2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 1.1 Articolo in rivista 2002 ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 1.1 Articolo in rivista 2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12. 4.1 Articoli in Atti di convegno 1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss
Oftalmoplegie familiari ad insorgenza precoce e tardiva. 1.1 Articolo in rivista 1999 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.
(1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica. 1.1 Articolo in rivista 1998 Magli, A.; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
Studio del metabolismo mitocondriale (curva lattato ed enzimi mitocondriali su piastrine ) in 4 pazienti affetti da oftalmoplegia congenita esterna cronica progressiva ad esordio infantile 1.1 Articolo in rivista 1992 Vastarella, P.; Santorelli, F.; DE BERARDINIS, Teresa; Banfi, S.; Gasparro Rippa, P.; A., Magli
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia. 4.1 Articoli in Atti di convegno 2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano
Le Varietà di strabismo sensibili al trattamento con tossina botulinica 1.1 Articolo in rivista 1998 Calace, P.; Magli, Adriano; DE BERARDINIS, Teresa
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1), additional CFEOM1 families, and a reduction of the critical region on chromosome 12. 5.14 Altro ministeriale 2000 Engle, E. C.; Mcintosh, N.; Lee, B. A.; Jhonson, R; O'Keefe, M.; Letson, R.; Krawiecki, N.; Shoffner, J; Ruttum, M; Sabol, Lj; Magli, Adriano; DE BERARDINIS, Teresa
: BMC Genet. 2002;3(1):3. Epub 2002 Mar 06. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 1.1 Articolo in rivista 2002 Engle, Ec; Mcintosh, N; Yamada, K; Lee, Ba; Johnson, R; O'Keefe, M; Letson, R; London, A; Ballard, E; Ruttum, M; Matsumoto, N; Saito, N; Collins, Ml; Morris, L; DEL MONTE, M; Magli, A; DE BERARDINIS, Teresa; DIVISION OF, Genetics; Childrens, Hospital; Boston, Ma; U. S., A.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 1.1 Articolo in rivista 2003 Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C.
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family 4.1 Articoli in Atti di convegno 2001 Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family 4.1 Articoli in Atti di convegno 2001 A., Magli; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Pharmacological denervation in the treatment of sixth cranial nerve palsy. 4.1 Articoli in Atti di convegno 2001 Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa
Oftalmoplegie familiari ad insorgenza precoce e tardiva. BOLLETTINO DI OCULISTICA, vol. 78 suppl. 3, p. 21-28, ISSN: 0006-67 1.1 Articolo in rivista 1999 Magli, A; DE BERARDINIS, Teresa; Gagliardi, V.
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. 4.1 Articoli in Atti di convegno 2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli
Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group. 1.1 Articolo in rivista 1998 Defazio, G; Berardelli, A; Abbruzzese, G; Lepore, V; Coviello, V; Acquistapace, D; Capus, L; Carella, F; DE BERARDINIS, Teresa; Galardi, G; Girlanda, P; Maurri, S; Albanese, A; Bertolasi, L; Liguori, R; Rossi, A; Santoro, L; Tognoni, G; Livrea, P.
Molecular and clinical characterization of albinism in a large cohort of Italian patients. 1.1 Articolo in rivista 2011 Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria